All variants in the ALPL gene

Information The variants shown are described using the NM_000478.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 4 c.283G>A r.(?) p.(Val95Met) - ACMG pathogenic g.21887691G>A g.21561198G>A Val78Met - ALPL_000107 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Sept 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.283G>A r.(?) p.(Val95Met) - ACMG pathogenic g.21887691G>A g.21561198G>A - - ALPL_000107 - PubMed: Yokoi 2019 - - Germline - - - 0 - Johan den Dunnen
+?/. 4 c.283G>A - p.Val95Met 0.57 relative activity, 0.80 WT/combined activity - NA g.21887691G>A g.21561198G>A - - ALPL_000107 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - Johan den Dunnen
Legend   How to query